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NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002490289.1

Allele description [Variation Report for NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)]

NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)

Gene:
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
HGVS:
  • NC_000008.11:g.142879146G>A
  • NG_007954.1:g.5675C>T
  • NM_000497.4:c.281C>TMANE SELECT
  • NM_001026213.1:c.281C>T
  • NP_000488.3:p.Pro94Leu
  • NP_000488.3:p.Pro94Leu
  • NP_001021384.1:p.Pro94Leu
  • NC_000008.10:g.143960562G>A
  • NM_000497.3:c.281C>T
  • P15538:p.Pro94Leu
  • p.PRO94LEU
Protein change:
P94L; PRO94LEU
Links:
UniProtKB: P15538#VAR_065666; OMIM: 610613.0016; dbSNP: rs104894070
NCBI 1000 Genomes Browser:
rs104894070
Molecular consequence:
  • NM_000497.4:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010
Name:
Glucocorticoid-remediable aldosteronism
Synonyms:
ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; FH I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007080; MedGen: C3838731; Orphanet: 403; OMIM: 103900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002812329Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 16, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002812329.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024